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Phenylketonuria Screening with a Fluorometric Microplate Assay by N. Lubenow; F. Diepenbrock; H. Schickling; D. Bock; R. Heckler; J. Sander is a Medicine article available to read on EtoBox.

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A fluorometric assay in microtitre plates for the screening of phenylketonuria was evaluated and adapted to a neonatal screening programme. Using this assay, it is possible to deterraine quantitatively the phenylalanine concentration in dried blood Spots on fiiter paper. The test exhibited a linear calibration curve with a good slope äs well äs sufficient precision and accuracy in the statistical analysis. Interference by other amino acids and antibiotics was not observed. Only elevated concentrations of leucine interfered to a small degree. l ! The phenylalanine concentration in dried blood spots of 13 phenylketonuria patients correlated to that in serum. | 7381 dried blood samples of newborn infants were tested simultaneously by both the fluorometric and the Guthrie test. The results did not show significant differences. We screened 29182 newborns using the fluorometric assay and an online data processing programme. The internal !( repetition rate was 0.64%, the external recall rate 0.15%. False negative results were not observed. In December 1991 the fluorometric methöd replaced the Guthrie test in our routine programme for phenylketonuria screening, and was introduced äs a foll

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Author

N. Lubenow; F. Diepenbrock; H. Schickling; D. Bock; R. Heckler; J. Sander

Publisher

Walter de Gruyter GmbH

Published

1994

Language

EN

Field

Medicine (Health Sciences)